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Genes in the NLR family provide instructions for making proteins called nucleotide-binding domain and leucine-rich repeat containing (NLR) proteins, which are found in the fluid inside cells (cytoplasm). These proteins are involved in starting and regulating the immune system's response to injury, toxins, or invasion by microorganisms.
NLR proteins recognize specific molecules, some of which are found in the cell walls or other components of microorganisms. When an NLR protein recognizes them, it helps activate the immune system to fight the microorganisms.
Some NLR proteins initiate a process that releases transcription factors. Transcription factors are proteins that attach (bind) to specific regions of DNA and help control the activity of particular genes, such as certain genes related to the immune system. Other NLR proteins assemble themselves along with additional molecules into structures called inflammasomes, which are involved in the process of inflammation.
Inflammation occurs when the immune system sends signaling molecules as well as white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair. In some cases, inflammation can be triggered inappropriately and result in damage to the body's own cells and tissues, as seen in autoinflammatory diseases such as Crohn disease and sarcoidosis. Variations in NLR genes have been linked with a number of these disorders.
The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the NLR family (http://www.genenames.org/genefamily/nlr.php).
Genetics Home Reference summarizes the normal function and health implications of these members of the NLR gene family: NLRP1, NLRP3, NLRP12, and NOD2.
Genetics Home Reference includes these conditions related to genes in the NLR gene family:
cell ; cytoplasm ; DNA ; domain ; immune system ; inflammation ; injury ; leucine ; nucleotide ; protein ; sarcoidosis ; tissue ; transcription ; white blood cells
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
These sources were used to develop the Genetics Home Reference summary for the NLR gene family.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.